Zellweger syndrome
Enzyme or protein defect
Peroxisome biogenesis (peroxin) proteins
Accumulates or becomes deficient
Very-long-chain fatty acids
Key features
Hypotonia, seizures, craniofacial dysmorphism, hepatomegaly, early death
Management
Supportive
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
-
1
Lipidomic profiling of PEX11β knockout T-REx 293 cells reveals lipid shifts suggesting potential metabolic perturbations.
Jeng S, Soni M, Kalel VC, Schliebs W, Erdmann R, Schulz F. · 2026-09-17
unreviewed -
2
Peroxisomal catalase and plasmalogen biosynthesis protect from oxidative stress in Barth syndrome cardiomyopathy.
Kajese E, Hachmann M, Ermer KJ, Erk M, Alhasaan L, Kohlhaas M, Bömmel H, Berberich L, Carlein C, Eberl H, Str… · 2026-06-30
open access unreviewed -
3
A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature review.
Aziz A, Bernard-Cuisinier T, Denis D, David T, Defoort-Dhellemes S, Meunier I, Grunewald O, Smirnov V. · 2026-03-29
unreviewed -
4
Ether glycerophospholipid control of peroxisome degradation confers protection from ischemia
· 2026-09-29
open access unreviewed -
5
Ciliary Membrane Lipid Homeostasis in Health and Disease.
Huang Z, Liu YY, Sun H, Liu P. · 2026-09-28
open access unreviewed -
6
Maternal Smartphone Use and Regulatory Disorders of the Infant: A Post Hoc Analysis of the SKKIPPI Cohort Study.
Berghöfer A, Wrenger AL, Fricke J, Bolster M, Kuchinke L, Ludwig-Körner C, Schlensog-Schuster F, Reinhold T, … · 2026-09-15
open access unreviewed -
7
The Extended Lifespan of <i>Caenorhabditis elegans rsks-1</i> Mutants Depends on the Peroxisomal Fatty Acid β-Oxidation Enzyme ACOX-1.2.
Zhao Q, Zhu R, Guo HX, Li ZX, Gong XQ, Duan JH, Ma YC, Zou CG, Wu N. · 2026-09-04
open access unreviewed -
8
Comorbid Auditory and Visual Dysfunction: From Pathogenic Genes to Gene Therapy.
Hu J, Kong C, Sun Y. · 2026-09-19
open access unreviewed -
9
Building peroxisomes: perspectives on plant peroxins.
Buck GC, Bartel B. · 2026-09-01
open access unreviewed -
10
Complementation of a human disease phenotype by intercellular mRNA transfer.
Haimovich G, Dasgupta S, Govindan Ravi A, Gerst JE. · 2026-09-07
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.